The Jackson Laboratory

Cardiac Genetic Testing Results Interpretation Tool

Summary: This resource helps clinicians interpret cardiac genetic testing results for inherited cardiovascular conditions. It provides clear guidance on test outcomes, clinical implications, and next steps for patient management and family risk assessment.

By JAX Clinical Education | January 2026

Key Points When Interpreting Genetic Test Results

  • The interpretation of a genetic result depends on the context of the individual and family.
  • If a patient meets clinical criteria for a genetic syndrome based on his or her medical and family history, the patient may be managed according to guidelines for the syndrome, even in the absence of confirmatory genetic testing.
  • When testing an unaffected individual, interpret a negative result with caution. A negative result is only a true-negative when a pathogenic variant has already been identified in the family.
  • Genetic test results are not always straightforward. In these cases, consider communicating with the lab or a genetic professional. To find a genetic professional, use the Accessing Genetic Services tool.
  • Genetic testing may reveal a pathogenic variant that is unrelated to the patient’s initial presentation (also called a secondary finding). Clinicians should review the report in detail to identify the cardiac risks associated with the identified gene and determine whether the finding explains the clinical features that prompted the testing.
  • Be cautious with counseling and management changes when results are uninformative or a variant of uncertain significance (VUS) is identified.

Possible Outcomes of Cardiovascular Genetic Testing (Autosomal Dominant Conditions)

Clinical Presentation of Person Tested

Genetic Testing Result

Interpretation

Management

Recommendations for Family Members

Affected

Positive

True positive. Disease-causing variant identified. Test confirms clinical diagnosis or clinical suspicion.

Follow gene-specific guidelines if they exist. Otherwise, follow guidelines for the clinical condition.

Targeted genetic testing of first-degree family members is recommended.

Affected

Negative

The result does not rule out the diagnosis or a genetic cause for the condition.

Follow guidelines for the clinical condition.

Genetic testing of unaffected family members not recommended. Cardiac screening may be recommended.

Affected

VUS

The result, at this time, is uninformative

Do not use in clinical decision-making.

Testing of family members for VUS is not recommended.

Unaffected

Positive

Patient is at risk for developing cardiac disease.

Follow gene-specific guidelines if they exist. Otherwise, follow guidelines for the clinical condition.

Targeted genetic testing of first-degree family members is recommended.

Unaffected

Negative for known, pathogenic familial variant

True negative. Patient is likely not at increased risk.

Increased screening based on the familial variant is not recommended.

Patient’s children are not at increased risk. Other family members at-risk should be offered genetic testing.

Unaffected

Negative (without a known familial variant)

Genetic cause cannot be ruled out.

Follow screening guidelines based on family history.

Other family members at-risk should be offered genetic testing.

Unaffected

VUS

The result, at this time, is uninformative.

Follow screening guidelines based on family history

Testing of family members for VUS is not recommended.

Learn More

Identifying Red Flags and Patterns for Hereditary Cardiovascular Disease. Practice identifying genetic risk factors for cardiac disease.

Interpreting Positive Results from Cardiac Genetic Testing. Practice interpreting positive genetic test results to personalize management of hereditary cardiovascular disease.

Interpreting Negative and Uncertain Results from Cardiac Genetic Testing. Practice interpreting negative and uncertain genetic test results to personalize patient management for hereditary cardiac disease.

Disclaimer

All information in this resource is provided for educational purposes only.

Leading the search for tomorrow's cures

©2026 The Jackson Laboratory